SNP Shot: Genomic Insights

Arginase deficiency is a genetic condition where the body can't properly process the amino acid arginine, leading to a buildup of arginine and ammonia in the bloodstream. Ammonia is a harmful substance produced during protein breakdown, and high levels are particularly damaging to the nervous system.

Symptoms of arginase deficiency typically emerge around age 3 and often include muscle stiffness, particularly in the legs, due to spasticity. Other possible signs are slowed growth, delayed development, loss of acquired skills, intellectual disability, seizures, tremors, and problems with balance and coordination (ataxia). Episodes of rapidly rising ammonia levels, triggered by high-protein meals, illness-related stress, or fasting, can cause irritability, refusal to eat, and vomiting.

In some individuals with arginase deficiency, the symptoms may be milder or appear later in life.

Inheritance:

Arginase deficiency follows an autosomal recessive inheritance pattern. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop the condition. The parents, who each carry one copy of the mutated gene, are usually unaffected and do not exhibit symptoms.